MCID: HLP020
MIFTS: 19

Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

MalaCards integrated aliases for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence:

Name: Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 57 20
Morse-Rawnsley-Sargent Syndrome 20 58
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
holoprosencephaly with fetal akinesia/hypokinesia sequence:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 306990
ICD10 via Orphanet 33 Q04.2
UMLS via Orphanet 71 C1844016
Orphanet 58 ORPHA2570
MedGen 41 C1844016

Summaries for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2570 Definition Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

MalaCards based summary : Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence, is also known as morse-rawnsley-sargent syndrome. An important gene associated with Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence is GPKOW (G-Patch Domain And KOW Motifs). Affiliated tissues include brain, eye and cerebellum, and related phenotypes are microcephaly and multiple joint contractures

More information from OMIM: 306990

Related Diseases for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Symptoms & Phenotypes for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Human phenotypes related to Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 multiple joint contractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002828
3 holoprosencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001360
4 decreased fetal movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0001558
5 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
6 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
11 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
12 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
13 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
14 abnormal dermatoglyphics 58 31 occasional (7.5%) Occasional (29-5%) HP:0007477
15 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
16 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
17 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
18 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
19 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
20 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
21 abnormality of the diencephalon 58 31 occasional (7.5%) Occasional (29-5%) HP:0010662
22 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
23 hydranencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002324
24 abnormal pleura morphology 31 occasional (7.5%) HP:0002103
25 abnormality of the pleura 58 Occasional (29-5%)
26 fetal akinesia sequence 31 HP:0001989

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head:
microcephaly
holoprosencephaly

Joints:
congenital multiple joint contractures

Growth:
intrauterine growth retardation

Neuro:
markedly decreased fetal movement

Clinical features from OMIM®:

306990 (Updated 20-May-2021)

Drugs & Therapeutics for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Genetic Tests for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Anatomical Context for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

MalaCards organs/tissues related to Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence:

40
Brain, Eye, Cerebellum

Publications for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Articles related to Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence:

# Title Authors PMID Year
1
Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome. 57
3211858 1988
2
Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia. 57
3321025 1987

Variations for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Expression for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Search GEO for disease gene expression data for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence.

Pathways for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

GO Terms for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Sources for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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