*RECORD*
*FIELD* NO
100050
*FIELD* TI
100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
*FIELD* TX

DESCRIPTION

Aarskog syndrome is characterized by short stature and facial, limb,
and genital anomalies. One form of the disorder is X-linked (see
305400), but there is also evidence for autosomal dominant and
autosomal recessive (227330) inheritance (summary by Grier et al.,
1983).

*RECORD*
*FIELD* NO
100070
*FIELD* TI
%100070 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1
;;ANEURYSM, ABDOMINAL AORTIC; AAA;;
ABDOMINAL AORTIC ANEURYSM
*FIELD* TX

DESCRIPTION

Abdominal aortic aneurysm is a multifactorial disorder with multiple
genetic and environmental risk factors. The disorder may occur as part
of a heritable syndrome or in isolation (summary by Kuivaniemi et al.,
2003).

*RECORD*
*FIELD* NO
100100
*FIELD* TI
#100100 PRUNE BELLY SYNDROME; PBS
;;ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND
CRYPTORCHIDISM;;
EAGLE-BARRETT SYNDROME; EGBRS
*FIELD* TX

A number sign (#) is used with this entry because of evidence that
prune belly syndrome (PBS) is caused by homozygous mutation in the
CHRM3 gene (118494) on chromosome 1q43. One such family has been
reported.

*RECORD*
*FIELD* NO
100500
*FIELD* TI
^100500 MOVED TO 100650
*FIELD* TX

fnord

*RECORD*
*FIELD* NO
100640
*FIELD* TI
*100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1
;;ALDEHYDE DEHYDROGENASE 1; ALDH1;;
ACETALDEHYDE DEHYDROGENASE 1;;
ALDH, LIVER CYTOSOLIC;;
RETINAL DEHYDROGENASE 1; RALDH1
*FIELD* TX

DESCRIPTION

The ALDH1A1 gene encodes a liver cytosolic isoform of acetaldehyde
dehydrogenase (EC 1.2.1.3), an enzyme involved in the major pathway of
alcohol metabolism after alcohol dehydrogenase (ADH, see 103700). See
also liver mitochondrial ALDH2 (100650), variation in which has been
implicated in different responses to alcohol ingestion.

*RECORD*
*FIELD* NO
100650
*FIELD* TI
^100650 MOVED TO 200150
*FIELD* TX

This entry was incorporated into 200150 on March 2, 2004.

*RECORD*
*FIELD* NO
100680
*FIELD* TI
^100680 MOVED TO 100740
*FIELD* TX

This entry was incorporated into entry 100740 on August 4, 2010.

*RECORD*
*FIELD* NO
100740
*FIELD* TI
^100740 REMOVED FROM DATABASE
*FIELD* TX

fnord

*RECORD*
*FIELD* NO
200150
*FIELD* TI
+200150 CHOREOACANTHOCYTOSIS; CHAC
;;LEVINE-CRITCHLEY SYNDROME;;
ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER;;
NEUROACANTHOCYTOSIS;;
CHOREA-ACANTHOCYTOSIS
*FIELD* TX

A number sign (#) is used with this entry because choreoacanthocytosis
can be caused by homozygous or compound heterozygous mutation in the
VPS13A gene (605978), which encodes chorein, on chromosome 9q21.

DESCRIPTION

Choreoacanthocytosis (CHAC) is a rare disorder characterized by
progressive neurodegeneration and red cell acanthocytosis, with onset
in the third to fifth decade of life (Rubio et al., 1997).
*THEEND*
