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 58
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome 60
Morse-Rawnsley-Sargent Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
holoprosencephaly with fetal akinesia/hypokinesia sequence:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 306990
ICD10 via Orphanet 35 Q04.2
UMLS via Orphanet 75 C1844016
Orphanet 60 ORPHA2570
MedGen 43 C1844016

Summaries for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

MalaCards based summary : Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence, also known as lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome, is related to 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 lung, eye and cerebellum, and related phenotypes are microcephaly and limitation of joint mobility

Description from OMIM: 306990

Related Diseases for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

Diseases related to Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 morse-rawnsley-sargent syndrome 11.7

Symptoms & Phenotypes for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

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

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
3 multiple joint contractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002828
4 holoprosencephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001360
5 decreased fetal movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0001558
6 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
7 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
8 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
9 enlarged thorax 60 33 frequent (33%) Frequent (79-30%) HP:0100625
10 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
11 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
12 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
13 abnormality of the pleura 60 33 occasional (7.5%) Occasional (29-5%) HP:0002103
14 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
15 abnormal dermatoglyphics 60 33 occasional (7.5%) Occasional (29-5%) HP:0007477
16 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
17 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
18 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
19 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
20 blepharophimosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000581
21 adducted thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001181
22 abnormality of the diencephalon 60 33 occasional (7.5%) Occasional (29-5%) HP:0010662
23 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
24 hydranencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002324
25 fetal akinesia sequence 33 HP:0001989

Symptoms via clinical synopsis from OMIM:

58
Head:
microcephaly
holoprosencephaly

Joints:
congenital multiple joint contractures

Growth:
intrauterine growth retardation

Neuro:
markedly decreased fetal movement

Clinical features from OMIM:

306990

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:

42
Lung, Eye, Cerebellum

Publications for Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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