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Gene: Srsf4 MGI:1890577

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Gene Summary

Name:
serine and arginine-rich splicing factor 4
Synonyms:
5730499P16Rik,  Sfrs4,  SRp75,  MNCb-2616

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Srsf4tm1a(EUCOMM)Wtsi HET   Early adult 2.92×10-05
increased IgE level Srsf4tm1a(EUCOMM)Wtsi HET Early adult 1.72×10-15
abnormal coat/hair pigmentation Srsf4tm1a(EUCOMM)Wtsi HET   Early adult 9.98×10-05
abnormal coat/hair pigmentation Srsf4tm1a(EUCOMM)Wtsi HOM Early adult 9.77×10-05
preweaning lethality, incomplete penetrance Srsf4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating creatinine level Srsf4tm1a(EUCOMM)Wtsi HET Early adult 6.76×10-06
decreased hematocrit Srsf4tm1a(EUCOMM)Wtsi HET Early adult 3.12×10-07
short tibia Srsf4tm1a(EUCOMM)Wtsi HET Early adult 8.03×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (4 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (4 of 4)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 25% (1 of 4)
Gall bladder N/A heterozygote 50% (2 of 4)
Heart N/A heterozygote 50% (2 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A heterozygote 100% (4 of 4)
Peripheral nervous system N/A heterozygote 75% (3 of 4)
Peyer's patch N/A heterozygote 100% (4 of 4)
Pituitary gland N/A heterozygote 25% (1 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 100% (4 of 4)
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 100% (4 of 4)
Thyroid gland N/A heterozygote 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Srsf4tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI

View all 142 images

Srsf4tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 6 images

Srsf4tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal vascularization, corneal opacity, abnormal cornea morphology, mydriasis, narrow eye opening, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
eye, corneal opacity, cornea/lens fusion, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Srsf4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Srsf4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, W... ORPHA:2779
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis OMIM:144200
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Immunodeficiency, Common Variable, 11
Clubbing of fingers, Decreased circulating IgG level, Decreased proportion of class-switched memo... OMIM:615767
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Pedal ede... ORPHA:98813
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Increased circulating IgE level, Hip dysplasia, Hypoplastic iliac wing, Short dist... ORPHA:1858
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Neutropenia, Chronic Familial
Clubbing of fingers, Clubbing, Increased circulating antibody level, Neutropenia OMIM:162700
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... ORPHA:189
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Palmoplantar hyperhidro... OMIM:270300
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased p... ORPHA:169154
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis OMIM:277740
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Micrognathia, Increased circulating IgE level, Short foo... ORPHA:3409
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy ORPHA:89843
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Increased circulat... ORPHA:634
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... ORPHA:277
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Clubbing, Eosinophilia, Hip dislocation OMIM:618523
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, 11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equi... OMIM:201170
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Talipes equinovaru... OMIM:619752
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Long eyelashes OMIM:616069
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ... OMIM:304790
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Increased circulating IgE le... OMIM:256500
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum creatinine... OMIM:617744
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Increase... ORPHA:449400
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Decreased circulati... OMIM:607143
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... OMIM:612926
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Eosinophilia, Micrognathia, Increased circulating IgE level, Decreased circulating IgA ... OMIM:618282
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulating IgG level, S... ORPHA:508533
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Elevated circulating creatinine concentration, Decreased circulating complement... OMIM:612925
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper... OMIM:235400
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:147060
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Hypopigme... ORPHA:177910
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia OMIM:607676
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Increased circulating IgE level, Onychogryposis OMIM:614328
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circula... OMIM:209950
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Elevated circulating c... OMIM:614376
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, Alopecia of s... OMIM:602450
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Blotching pigmentation of ... OMIM:601559
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Idiopathic Non-Lupus Full-House Nephropathy
Complement deficiency, Elevated circulating creatinine concentration, Decreased circulating compl... ORPHA:567544
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Elevated circulating C-reactive... ORPHA:2902
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ... OMIM:615559
C3 Glomerulopathy
Elevated circulating creatinine concentration, Paraproteinemia, Decreased circulating complement ... ORPHA:329918
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs OMIM:615605
Immunodeficiency 43
Hypoproteinemia, Hypoplasia of the ulna, Decreased specific antibody response to polysaccharide v... OMIM:241600
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphy... OMIM:600785
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Increased circulating IgE level, Increased circulating IgG level,... OMIM:615816
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ... OMIM:614072
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Palmoplantar keratoderma, Hypoalbuminemia, Sparse hair, Hypernat... OMIM:615508
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Silver-gray... ORPHA:381
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circu... ORPHA:37042
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Abnormal hair morphology, Paronychia, Increased circulating IgE level, Dystrophic f... ORPHA:2314
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Lead Poisoning
Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s... ORPHA:330015
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Blue irides, Short metatarsal, Advanced ossification of carpal bones, Cone-shap... OMIM:614613
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... ORPHA:79477
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Obesity And Hypopigmentation
Red hair OMIM:620195
Aspergillosis
Abnormal long bone morphology, Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:618048
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Immunodeficiency 22
Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportio... OMIM:615758
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinov... OMIM:608104
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Decreased circulat... ORPHA:90060
Methionine Malabsorption Syndrome
Aminoaciduria, White hair, Blue irides, Positive ferric chloride test OMIM:250900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ... OMIM:618213
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxi... OMIM:616300
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hypopigmented skin patches, C... ORPHA:53271
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... ORPHA:2751
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... ORPHA:507
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Sandal gap, Small hand, Short foot, Iron deficiency anem... OMIM:618885
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Waardenburg Syndrome, Type 3
Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopigmented skin patches, Pr... OMIM:148820
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Lymphopen... ORPHA:935
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Lymphopenia, M... OMIM:250250
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Ataxia-Telangiectasia
Hypopigmentation of hair, Decreased circulating antibody level, Premature graying of hair, Multip... ORPHA:100
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Micrognathia, Abnormality of hair pigmentation, Dec... OMIM:618156
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Caffey Disease
Cortical thickening of long bone diaphyses, Increased circulating antibody level, Periosteal thic... ORPHA:1310
Tibial Hemimelia
Absent tibia OMIM:275220
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Supernume... ORPHA:373
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Chilblain Lupus
Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Tapered toe, Elevated circulating creatine kinase concentration, Tapered finger, Hypopl... OMIM:608836
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Frontal hir... ORPHA:96334
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Abnormal eyelash morphology, Capitate-hamate fusion, 2-3 toe cutaneou... OMIM:206920
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... ORPHA:3322
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... OMIM:307800
Myeloma, Multiple
Paraproteinemia OMIM:254500
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Cryoglobulinemia, Familial Mixed
Cryoglobulinemia, Elevated circulating creatinine concentration OMIM:123550
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Synophrys, Metaphyseal widening, Low anterior hairline, Clubbing, Neutropenia, ... OMIM:617303
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty... ORPHA:999
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Increased c... OMIM:615934
Schnitzler Syndrome
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia ORPHA:37748
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... OMIM:300755
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... ORPHA:542323
Interstitial Lung Disease 2
Clubbing of fingers, Increased circulating antibody level OMIM:178500
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... ORPHA:449395
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase, Micrognathia ORPHA:171442
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Prolidase Deficiency
Micrognathia, Thrombocytopenia, Splenomegaly, Low posterior hairline, Increased circulating antib... OMIM:170100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... OMIM:214500
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Normocytic anemia, Normochromic anemia, Elev... ORPHA:247691
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio OMIM:618495
Aapoaiv Amyloidosis
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration ORPHA:439232
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina... OMIM:619172
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... ORPHA:276
Activated Pi3K-Delta Syndrome
Splenomegaly, Increased circulating IgM level, B lymphocytopenia, Decreased circulating antibody ... ORPHA:397596
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Neutropenia, Palmoplantar hyperkera... OMIM:613989
Occipital Horn Syndrome
Pes planus, Brachydactyly, Thick hair, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Down... ORPHA:198
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Absent patellar reflexes, Abnormality of the calf... ORPHA:206594
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Tularemia
Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Anemia ORPHA:3392
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abnormality of the lower limb, Elevated circu... ORPHA:36234
Boutonneuse Fever
Abnormality of the plantar skin of foot, Increased circulating IgG level, Increased circulating I... ORPHA:83313
Trichothiodystrophy 3, Photosensitive
Brittle hair, Increased circulating IgA level, Neutropenia, Tiger tail banding, Lymphopenia, Tric... OMIM:616395
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Finger swelling, Increased circulating anti... OMIM:617591
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
46,Xy Sex Reversal 4
Micrognathia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:617099
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Congenital Analbuminemia
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Increased circulating antibody level, Hypo... ORPHA:86816
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Trichinellosis
Increased circulating IgE level ORPHA:863
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... ORPHA:470
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Zika Virus Disease
Increased circulating IgM level, Ankle swelling, Thrombocytopenia, Retinal pigment epithelial mot... ORPHA:448237
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... ORPHA:411634
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Micrognathia, Increased circulating IgM level, T lymphocytopenia, Reduced natural killer cell cou... OMIM:242860
Poems Syndrome
Metaphyseal sclerosis, Leukonychia, Clubbing of fingers, Increased circulating antibody level, Th... ORPHA:2905
Viss Syndrome
Microretrognathia, Sparse scalp hair, Alopecia, Pes planus, Long toe, Arachnodactyly, Rocker bott... OMIM:619472
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Eosinophi... ORPHA:449563
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... ORPHA:84064
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Micromelia, Dum... ORPHA:3144
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Hyperpigmentation of the skin ORPHA:48377
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Hypopigmentation of hair, Elevated circulating crea... OMIM:242840
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin... OMIM:200980
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Abnormal toenail morphology,... ORPHA:1827
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Increased to... ORPHA:2137
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pedal edema, Leukopenia, Increased c... ORPHA:77259
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Abnormality of retinal pigmentation, Elevated circulating C-reactive protein c... ORPHA:91500
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido... ORPHA:1974
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Brittle Cornea Syndrome 1
Red hair, Congenital hip dislocation, Palmoplantar cutis laxa OMIM:229200
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Prader-Willi Syndrome
Syndactyly, Hypopigmentation of hair, Acromicria, Small hand, Genu valgum, Short foot, Hip dyspla... OMIM:176270
Brittle Cornea Syndrome
Hallux valgus, Pes planus, Arachnodactyly, Abnormality of hair pigmentation, Hip dysplasia, Abnor... ORPHA:90354
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, Hyperkalemia, ... ORPHA:340
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Slow-growing hair, Short nail, Thin nail, Rhizomelia, Br... OMIM:218330
Oligomeganephronia
Elevated circulating creatinine concentration, Micrognathia ORPHA:2260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thick hair, Thrombocytopenia, Hepatosplenomegaly, Increased ... ORPHA:505248
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki... ORPHA:99829
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Alopecia, Decreased circulating complement factor B con... ORPHA:2298
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Prader-Willi Syndrome Due To Translocation
Pes planus, Hypopigmentation of hair, Brachydactyly, Overlapping toe, Micrognathia, Small hand, S... ORPHA:177907
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Arachnodactyly, Abnormal thumb morphology, Ocular albinism, Anemia, Iri... ORPHA:2719
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration ORPHA:90003
Degcags Syndrome
Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature grayi... OMIM:619488
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hy... ORPHA:98794
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Increased circulating antibod... ORPHA:85443
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Microgna... ORPHA:233
Primary Biliary Cholangitis
Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ... ORPHA:186
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Koolen-De Vries Syndrome
Hypopigmentation of hair, Arachnodactyly, Hip dislocation, Abnormality of hair texture ORPHA:96169
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin ORPHA:398079
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Metaphyseal widening... OMIM:219800
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Japanese Encephalitis
Hyponatremia, Neutrophilia, Genu recurvatum, Increased circulating IgM level, Increased circulati... ORPHA:79139
Cystic Echinococcosis
Increased circulating antibody level, Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Small hand, Pedal edema, Short foot, Hip dysplasia, Hypopigmentation of... ORPHA:98754
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, N... ORPHA:79430
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Small hand, Pedal edema, Short foot, Hip dysplasia, Hypopigmentation of... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Small hand, Pedal edema, Short foot, Hip dysplasia, Hypopigmentation of... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Small hand, Pedal edema, Short foot, Hip dysplasia, Hypopigmentation of... ORPHA:177901
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin ORPHA:398069
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Hypopigmentation of hair, Rhizomelia, Proximal placement of thumb, Micrognathi... ORPHA:818
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Eosinophilia, Pedal edema, Abnormal spleen morphology, Increased... ORPHA:284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Pes cavus, Increased circulating antibody level, Elevated circulating creatine kinase concentrati... OMIM:606002
Primary Sjögren Syndrome
Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant... ORPHA:289390
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Hypertrichosis, Fibular hypopla... OMIM:619297
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Hypoplastic toenails, Preax... ORPHA:2753
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Scleromyxedema
Paraproteinemia, Elevated circulating creatine kinase concentration ORPHA:167635
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Increased circulating antibody level, Cryoglobulinemia,... ORPHA:781
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... ORPHA:163746
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le... ORPHA:297
Prader-Willi Syndrome
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin ORPHA:739
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Micrognathia, Hypo... ORPHA:444077
Menkes Disease
Hypopigmentation of hair, Bowing of the long bones, Tarsal synostosis, Micrognathia, Sparse hair,... ORPHA:565
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:77261
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Anemi... OMIM:615846
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Increased circulating ferritin ... OMIM:619534
Brucellosis
Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto... ORPHA:1304
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Lassa Fever
Increased circulating IgM level ORPHA:99824
Postinfectious Vasculitis
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... ORPHA:48435
Gaucher Disease
Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega... ORPHA:355
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Hyperbilirubinemia ORPHA:562639
Coccidioidomycosis
Eosinophilia, Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG... ORPHA:228123
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Clubbing, Increased circulating ant... OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... ORPHA:99827
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Hy... ORPHA:171
Cysticercosis
Increased circulating antibody level ORPHA:1560

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Srsf4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Srsf4.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The SRSF4-GAS5-Glucocorticoid Receptor Axis Regulates Ventricular Hypertrophy. Circulation research (August 2021) Srsf4tm1c(EUCOMM)Wtsi Srsf4tm1a(EUCOMM)Wtsi PMC8409900
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Srsf4tm1a(EUCOMM)Wtsi Srsf4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Srsf4tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Srsf4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Srsf4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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