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MedGen for PubMed (Select 15207231)

Items: 12

1.

Heparin-induced thrombocytopenia

A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. [from NCI]

MedGen UID:
124423
Concept ID:
C0272285
Disease or Syndrome
2.

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and great toes, short stature, and moderate to severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal; however, height, weight, and head circumference percentiles rapidly drop in the first few months of life. Obesity may occur in childhood or adolescence. IQ scores range from 25 to 79; average IQ is between 36 and 51. Other variable findings are coloboma, cataract, congenital heart defects, renal abnormalities, and cryptorchidism. [from GeneReviews]

MedGen UID:
48517
Concept ID:
C0035934
Congenital Abnormality; Disease or Syndrome
3.

Otopalatodigital syndrome

Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. [from ORDO]

MedGen UID:
799686
Concept ID:
CN205496
Disease or Syndrome
4.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
5.

Oto-palato-digital syndrome, type I

The otopalatodigital (OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type I (OPD1). Otopalatodigital syndrome type II (OPD2). Frontometaphyseal dysplasia (FMD). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD, females are less severely affected than related affected males. Males do not experience progression of skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. Prenatal lethality is most common in males with MNS. TODPD is a female limited condition, characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata. [from GeneReviews]

MedGen UID:
78542
Concept ID:
C0265251
Congenital Abnormality; Disease or Syndrome
6.

Protan defect

Hereditary red-green color vision defects manifest mostly in males; the condition is not accompanied by ophthalmologic or other associated clinical abnormalities. Most individuals with protanomalous and deuteranomalous color vision defects (i.e., anomalous trichromats) have no problems in naming colors; some males with mildly defective red-green color vision may not be aware of it until they are tested. Individuals with dichromatic color vision defects (i.e., dichromats) are more proficient in deciphering texture camouflaged by color than observers with normal red-green color vision. Among individuals of northern European origin, about 8% of males and 0.5% of females have red-green color vision defects; these defects are less frequent among males of African (3%-4%) or Asian (3%) origin. [from GeneReviews]

MedGen UID:
56350
Concept ID:
C0155015
Disease or Syndrome
7.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Rett's disorder

MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 variants are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males. [from GeneReviews]

MedGen UID:
48441
Concept ID:
C0035372
Disease or Syndrome
9.

Intellectual disability, profound

IQ below 20. [from PSY]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
10.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
11.

Congenital chromosomal disease

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) [from MeSH]

MedGen UID:
3441
Concept ID:
C0008626
Disease or Syndrome
12.

Mental retardation 42, X-linked

MedGen UID:
337321
Concept ID:
C1845810
Disease or Syndrome
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