SHNKND
MCID: SCH030
MIFTS: 28

Schneckenbecken Dysplasia (SHNKND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Schneckenbecken Dysplasia

MalaCards integrated aliases for Schneckenbecken Dysplasia:

Name: Schneckenbecken Dysplasia 58 12 54 60 76 38 30 13 6 45 15 74
Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis 58 76
Shnknd 58 76
Chondrodysplasia Lethal Neonatal with Snail Like Pelvis 54
Chondrodysplasia with Snail-Like Pelvis 60
Dysplasia, Schneckenbecken 41
Slc35d1-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
schneckenbecken dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or lethal in the neonatal period


HPO:

33
schneckenbecken dysplasia:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050775
OMIM 58 269250
KEGG 38 H00474
MESH via Orphanet 46 C536637
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C0432194
Orphanet 60 ORPHA3144
MedGen 43 C0432194
UMLS 74 C0432194

Summaries for Schneckenbecken Dysplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3144Disease definitionSchneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.EpidemiologyLess than 20 cases have been reported in the literature so far.Clinical descriptionThe typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.EtiologyThis syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)Genetic counselingSchneckenbecken dysplasia is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Schneckenbecken Dysplasia, also known as chondrodysplasia, lethal neonatal, with snail-like pelvis, is related to dwarfism. An important gene associated with Schneckenbecken Dysplasia is SLC35D1 (Solute Carrier Family 35 Member D1). Affiliated tissues include bone, and related phenotypes are macrocephaly and malar flattening

Disease Ontology : 12 An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has material basis in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.

OMIM : 58 Schneckenbecken dysplasia is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007). (269250)

UniProtKB/Swiss-Prot : 76 Schneckenbecken dysplasia: A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period.

Related Diseases for Schneckenbecken Dysplasia

Diseases related to Schneckenbecken Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.2

Symptoms & Phenotypes for Schneckenbecken Dysplasia

Human phenotypes related to Schneckenbecken Dysplasia:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
3 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
4 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
5 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
6 lymphedema 60 33 hallmark (90%) Very frequent (99-80%) HP:0001004
7 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
8 disproportionate short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008873
9 hypoplastic scapulae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000882
10 hypoplastic vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0008479
11 fibular hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003038
12 hypoplastic ilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000946
13 short ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000773
14 lateral clavicle hook 60 33 hallmark (90%) Very frequent (99-80%) HP:0000895
15 increased fibular diameter 60 33 hallmark (90%) Very frequent (99-80%) HP:0012107
16 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
17 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
18 hypoplastic toenails 60 33 frequent (33%) Frequent (79-30%) HP:0001800
19 abnormal fingernail morphology 33 frequent (33%) HP:0001231
20 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
21 diaphyseal thickening 60 33 occasional (7.5%) Occasional (29-5%) HP:0005019
22 accelerated skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005616
23 dumbbell-shaped long bone 60 33 occasional (7.5%) Occasional (29-5%) HP:0000947
24 advanced tarsal ossification 60 33 occasional (7.5%) Occasional (29-5%) HP:0008108
25 abnormality of the metaphysis 60 Very frequent (99-80%)
26 ovoid vertebral bodies 33 HP:0003300
27 abnormal form of the vertebral bodies 60 Very frequent (99-80%)
28 abnormality of the fingernails 60 Frequent (79-30%)
29 brachydactyly 33 HP:0001156
30 midface retrusion 33 HP:0011800
31 flat acetabular roof 33 HP:0003180
32 anterior rib cupping 33 HP:0000907
33 metaphyseal irregularity 33 HP:0003025
34 advanced ossification of carpal bones 33 HP:0004233
35 snail-like ilia 33 HP:0031026

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Chest External Features:
narrow chest

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
short, splayed ribs
hook-shaped clavicles

Head And Neck Head:
large head

Skeletal Spine:
round vertebral bodies
sacral stenosis

Skeletal Feet:
precociously ossified tarsal bones

Head And Neck Mouth:
cleft palate

Skeletal Hands:
brachydactyly
precociously ossified carpal bones

Head And Neck Face:
flat midface

Skeletal Pelvis:
flat acetabular roofs
snail-shaped ilia

Growth Height:
dwarfism, micromelic

Skeletal Limbs:
dumbbell-shaped short long bones
metaphyseal irregularities

Prenatal Manifestations Delivery:
stillborn or lethal in the neonatal period

Clinical features from OMIM:

269250

Drugs & Therapeutics for Schneckenbecken Dysplasia

Search Clinical Trials , NIH Clinical Center for Schneckenbecken Dysplasia

Cochrane evidence based reviews: schneckenbecken dysplasia

Genetic Tests for Schneckenbecken Dysplasia

Genetic tests related to Schneckenbecken Dysplasia:

# Genetic test Affiliating Genes
1 Schneckenbecken Dysplasia 30 SLC35D1

Anatomical Context for Schneckenbecken Dysplasia

MalaCards organs/tissues related to Schneckenbecken Dysplasia:

42
Bone

Publications for Schneckenbecken Dysplasia

Articles related to Schneckenbecken Dysplasia:

# Title Authors Year
1
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). ( 25997753 )
2015
2
Schneckenbecken dysplasia in fetus: report of four cases. ( 19407457 )
2009
3
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. ( 19508970 )
2009
4
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. ( 17952091 )
2007
5
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. ( 15386610 )
2004
6
Schneckenbecken dysplasia, radiology, and histology. ( 11200994 )
2001
7
Case report 870. Schneckenbecken dysplasia, possibly a new variant. ( 7824994 )
1994
8
Case report 693: Schneckenbecken dysplasia. ( 1754916 )
1991
9
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. ( 3799723 )
1986

Variations for Schneckenbecken Dysplasia

ClinVar genetic disease variations for Schneckenbecken Dysplasia:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35D1 SLC35D1, 1-BP DEL, 125A deletion Pathogenic
2 SLC35D1 NM_015139.2(SLC35D1): c.932G> A (p.Trp311Ter) single nucleotide variant Pathogenic rs137853111 GRCh37 Chromosome 1, 67474795: 67474795
3 SLC35D1 NM_015139.2(SLC35D1): c.932G> A (p.Trp311Ter) single nucleotide variant Pathogenic rs137853111 GRCh38 Chromosome 1, 67009112: 67009112
4 SLC35D1 SLC35D1, IVS7DS, G-T, +1 single nucleotide variant Pathogenic
5 SLC35D1 NM_015139.2(SLC35D1): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs267607063 GRCh37 Chromosome 1, 67518459: 67518459
6 SLC35D1 NM_015139.2(SLC35D1): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs267607063 GRCh38 Chromosome 1, 67052776: 67052776
7 SLC35D1 SLC35D1, IVS4DS, A-G, +3 single nucleotide variant Pathogenic
8 SLC35D1 SLC35D1, 4.9-KB DEL, EX7 deletion Pathogenic
9 SLC35D1 NM_015139.2(SLC35D1): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs267607062 GRCh37 Chromosome 1, 67519504: 67519504
10 SLC35D1 NM_015139.2(SLC35D1): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs267607062 GRCh38 Chromosome 1, 67053821: 67053821
11 SLC35D1 NM_015139.2(SLC35D1): c.40G> A (p.Gly14Arg) single nucleotide variant Uncertain significance rs1553268935 GRCh38 Chromosome 1, 67053974: 67053974
12 SLC35D1 NM_015139.2(SLC35D1): c.40G> A (p.Gly14Arg) single nucleotide variant Uncertain significance rs1553268935 GRCh37 Chromosome 1, 67519657: 67519657

Expression for Schneckenbecken Dysplasia

Search GEO for disease gene expression data for Schneckenbecken Dysplasia.

Pathways for Schneckenbecken Dysplasia

GO Terms for Schneckenbecken Dysplasia

Sources for Schneckenbecken Dysplasia

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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