Preferred Label : Retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy,
deafness, and mental retardation; Retinitis pigmentosa, deafness, mental retardation, and hypogonadism;
Description : Edwards et al. (1976) described a family in which 3 brothers and a sister had retinitis
pigmentosa, deafness, and mental retardation. Nystagmus, acanthosis nigricans and
multiple keloids were also present. The males had gynecomastia, small testes, and
mild subvirilization. The only indication of hypogonadism in the female was oligomenorrhea.
Disturbance of glucose metabolism and hyperinsulinism were demonstrated in some. Boor
et al. (1993) described affected brother and sister of Moroccan origin who had first-cousin
parents. They had diabetes mellitus with hyperinsulinism, insensitive insulin receptors,
and acanthosis nigricans. Other features were pigmentary retinopathy, secondary cataracts,
labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately
short with relatively broad hands and feet and slightly coarse face. The young woman,
aged 18 years, had secondary amenorrhea and polycystic ovaries; her brother, aged
15 years, had gynecomastia and hypergonadotropic hypogonadism. This condition, in
which the hypogonadism is secondary and polydactyly is not present, is similar to,
but distinct from, the syndromes of Laurence-Moon (245800) and Biedl-Bardet (209900).
It is distinguished from Alstrom syndrome (203800) by the presence of mental retardation
and the absence of renal insufficiency. There are some similarities to Usher syndrome
(276900). *FIELD* RF 1. Boor, R.; Herwig, J.; Schrezenmeir, J.; Pontz, B. F.; Schonberger,
W.: Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic
ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.
Am. J. Med. Genet. 45: 649-653, 1993. 2. Edwards, J. A.; Sethi, P. K.; Scoma, A. J.;
Bannerman, R. M.; Frohman, L. A.: A new familial syndrome characterized by pigmentary
retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.
Am. J. Med. 60: 23-32, 1976. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Laboratory abnormalities : Hyperinsulinism; Mildly elevated transaminases; Decreased insulin receptor binding;
Prefixed ID : 268020;
Origin ID : 268020;
UMLS CUI : C1849401;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
