MCID: MLL022
MIFTS: 24

Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly

Categories: Cardiovascular diseases, Fetal diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

MalaCards integrated aliases for Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly:

Name: Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 56 52
Urioste Syndrome 56 52 58
Renal and Craniofacial Anomalies with Persistence of Mullerian Derivatives, Lymphangiectasis, Hepatic Failure, Postaxial Polydactyly 52
Persistence of Mullerian Derivatives with Lymphangiectasia and Postaxial Polydactyly 52
Mullerian Derivatives-Lymphangiectasia-Polydactyly Syndrome 58
Urioste Martinez-Frias Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
mullerian derivatives-lymphangiectasia-polydactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy


HPO:

31
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

MalaCards based summary : Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly, also known as urioste syndrome, is related to lymphangiectasis and protein-losing enteropathy. Affiliated tissues include skin, thyroid and uterus, and related phenotypes are splenomegaly and hepatomegaly

More information from OMIM: 235255

Related Diseases for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Diseases related to Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphangiectasis 10.3
2 protein-losing enteropathy 10.2
3 47,xyy 10.2

Symptoms & Phenotypes for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Human phenotypes related to Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
6 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
7 ascites 58 31 hallmark (90%) Very frequent (99-80%) HP:0001541
8 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
9 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
10 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
13 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
14 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
15 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
16 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
17 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
18 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
19 abnormality of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000130
20 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
21 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
22 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
23 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
24 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
25 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
26 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
27 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
28 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
29 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
30 alveolar ridge overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009085
31 vaginal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000148
32 hypoproteinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003075
33 redundant neck skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0005989
34 hypertrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000998
35 abnormally large globe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001090
36 pulmonary lymphangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006521
37 pancreatic lymphangiectasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006273
38 abnormal fallopian tube morphology 31 hallmark (90%) HP:0011027
39 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
40 protein-losing enteropathy 58 31 frequent (33%) Frequent (79-30%) HP:0002243
41 muscular hypotonia 31 HP:0001252
42 wide nasal bridge 31 HP:0000431
43 cleft palate 31 HP:0000175
44 lymphedema 31 HP:0001004
45 thickened nuchal skin fold 31 HP:0000474
46 proptosis 31 HP:0000520
47 malar flattening 31 HP:0000272
48 abnormal renal morphology 58 Very frequent (99-80%)
49 abnormality of the fallopian tube 58 Very frequent (99-80%)
50 thyroid lymphangiectasia 31 HP:0008229

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Genitourinary External Genitalia Male:
inguinal hernia
small penis

Head And Neck Neck:
short neck
redundant nuchal skin

Head And Neck Mouth:
cleft palate
high-arched palate
hypertrophied alveolar ridge
long thin upper lip

Genitourinary Internal Genitalia Male:
cryptorchidism
mullerian duct remnants (uterus and fallopian tube in male patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
ventriculomegaly
hypotonia

Cardiovascular Heart:
ventricular septal defect

Skeletal Hands:
postaxial polydactyly

Abdomen Pancreas:
pancreatic lymphangiectasis

Chest External Features:
narrow thorax

Skin Nails Hair Hair:
hypertrichosis (face, body)

Endocrine Features:
thyroid lymphangiectasis

Abdomen Liver:
hepatomegaly
hepatic failure

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
prominent eyes

Head And Neck Face:
smooth philtrum
micrognathia
flat midface

Abdomen External Features:
ascites
abdominal distention

Head And Neck Ears:
low-set ears

Genitourinary Kidneys:
hydronephrosis

Head And Neck Head:
flat occiput

Laboratory Abnormalities:
hypocalcemia
hypoproteinemia

Abdomen Gastrointestinal:
protein-losing enteropathy
stomach, jejunal, and ileal lymphangiectasis

Head And Neck Nose:
broad nasal bridge

Respiratory Lung:
pulmonary lymphangiectasis

Muscle Soft Tissue:
lymphedema (lower limb)

Clinical features from OMIM:

235255

Drugs & Therapeutics for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Search Clinical Trials , NIH Clinical Center for Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly

Genetic Tests for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Anatomical Context for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

MalaCards organs/tissues related to Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly:

40
Skin, Thyroid, Uterus, Eye

Publications for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Articles related to Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly:

# Title Authors PMID Year
1
Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome. 61 56
11746030 2001
2
Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. 56 61
11746031 2001
3
Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies. 56
8256813 1993
4
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations. 61
22140078 2012

Variations for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Expression for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Search GEO for disease gene expression data for Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly.

Pathways for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

GO Terms for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

Sources for Mullerian Derivatives, Persistence of, with Lymphangiectasia and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....