Autoimmunity, and Micropenis

Diseases related with Autoimmunity and Micropenis

In the following list you will find some of the most common rare diseases related to Autoimmunity and Micropenis that can help you solving undiagnosed cases.


Top matches:

Medium match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 8; BBS8


BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY


Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Low match TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5

Low match OBESITY DUE TO CONGENITAL LEPTIN DEFICIENCY


Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.

OBESITY DUE TO CONGENITAL LEPTIN DEFICIENCY Is also known as obesity, morbid, nonsyndromic 1

Related symptoms:

  • Recurrent infections
  • Obesity
  • Pneumonia
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO CONGENITAL LEPTIN DEFICIENCY

Low match X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME


X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME Is also known as xq28 contiguous gene deletion syndrome

Related symptoms:

  • Myopathy
  • Hypospadias
  • Micropenis
  • Bifid scrotum


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Top 5 symptoms//phenotypes associated to Autoimmunity and Micropenis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Short stature Pneumonia Hypospadias Obesity Intrauterine growth retardation Immunodeficiency Cleft palate Microcephaly Global developmental delay Primary amenorrhea Amenorrhea Decreased testicular size Renal insufficiency Abnormality of the kidney Hypogonadism Cognitive impairment Diarrhea Scoliosis

Rare Symptoms - Less than 30% cases


Combined immunodeficiency Abnormality of the genital system Glomerulopathy Myopia Wide nasal bridge Anemia Renal dysplasia Abnormal facial shape Recurrent ear infections Focal segmental glomerulosclerosis Generalized hypotonia Frontal bossing Glomerulonephritis Glomerulosclerosis Streak ovary Increased thyroid-stimulating hormone level Abnormality of the dentition Kyphosis Decreased serum estradiol Astigmatism Asthma Increased body weight Congenital diaphragmatic hernia Microdontia Growth hormone deficiency Decreased antibody level in blood Brittle hair Malabsorption Hernia Nystagmus Cerebellar hypoplasia Recurrent upper respiratory tract infections Panhypopituitarism Sensorineural hearing impairment High palate Hypertelorism Ptosis Heterotopia Purpura Prominent nose Dental malocclusion Intellectual disability, mild Fever Hypertension Nephropathy Fine hair Brain atrophy Intellectual disability, profound Sparse hair Hypergonadotropic hypogonadism Nephrotic syndrome Hyperlipidemia Thin upper lip vermilion Stage 5 chronic kidney disease High forehead Insulin-resistant diabetes mellitus Proteinuria Autoimmune thrombocytopenia Protruding ear Mucopolysacchariduria Multiple lentigines Abnormal T cell morphology Hypoplasia of the capital femoral epiphysis Steroid-resistant nephrotic syndrome Arteriosclerosis Shallow acetabular fossae Abnormal cerebellum morphology Gliosis Right ventricular cardiomyopathy Encephalomalacia Neutropenia Hydrometrocolpos Abnormal immunoglobulin level Situs inversus totalis Platyspondyly Neurological speech impairment Bulbous nose Moyamoya phenomenon Abnormality of skin pigmentation Premature arteriosclerosis Anterior pituitary dysgenesis Postaxial polydactyly Nephrosclerosis Lateral displacement of the femoral head Rod-cone dystrophy Brachycephaly Polydactyly Cellular immunodeficiency Azoospermia Dentinogenesis imperfecta Abnormality of epiphysis morphology Abnormal lung morphology Emphysema Abnormal form of the vertebral bodies Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Lymphopenia Lumbar hyperlordosis Epiphyseal dysplasia Bone marrow hypocellularity Encephalitis Opacification of the corneal stroma Atherosclerosis Chronic kidney disease Coarse hair High pitched voice Hypermelanotic macule Subvalvular aortic stenosis Premature birth Precocious atherosclerosis Migraine Cerebral ischemia Villous atrophy Reduced bone mineral density B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Steatorrhea Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Lymphoma Waddling gait Multiple cafe-au-lait spots Lymphoproliferative disorder Overlapping fingers Low-set ears Gynecomastia Decreased testosterone in males Absence of secondary sex characteristics Pituitary hypothyroidism Orthostatic hypotension Polyphagia Hyperinsulinemia Accelerated skeletal maturation Recurrent pneumonia Insulin resistance Orthostatic hypotension due to autonomic dysfunction Hypertriglyceridemia Hypotension Infertility Difficulty walking Ambiguous genitalia, female Uterus didelphys Slow-growing scalp hair Widely spaced primary teeth Decreased proportion of CD4-positive T cells Hypoplasia of the ovary Slow-growing hair Pallor Gonadoblastoma Abnormal renal physiology Aniridia Gonadal dysgenesis Nephroblastoma Ambiguous genitalia Abdominal distention Lethargy Weight loss Decreased serum leptin Edema Respiratory insufficiency Ambiguous genitalia, male Neoplasm Bifid scrotum Myopathy Abnormal eating behavior Decreased T cell activation Diffuse mesangial sclerosis Microphallus Low-grade fever Visual impairment Severe vision loss Apraxia Cleft lip Anteverted nares Ataxia Recurrent aphthous stomatitis Male pseudohermaphroditism Recurrent lower respiratory tract infections Severe combined immunodeficiency Cortical gyral simplification Oculomotor apraxia CNS hypomyelination Short chin Pachygyria Cerebellar vermis hypoplasia Sepsis Deeply set eye Prominent forehead Long philtrum Hypoplasia of the corpus callosum Corneal opacity Tachypnea Progeroid facial appearance Ovarian gonadoblastoma Global brain atrophy Cutis marmorata Optic nerve hypoplasia Progressive microcephaly Chronic diarrhea Anuria True hermaphroditism Broad-based gait Cutaneous photosensitivity Cone/cone-rod dystrophy Dandy-Walker malformation Retinal dystrophy Wide mouth Mandibular prognathia Inferior vermis hypoplasia Ectopic posterior pituitary Central hypothyroidism Molar tooth sign on MRI Bilateral ptosis Hip dislocation Common atrium Stroke Ventricular septal defect Severe short stature Abnormal heart morphology Visual loss Patent ductus arteriosus Clinodactyly Depressivity Dilatation Atrial septal defect Abnormality of the skeletal system Macrotia Brachydactyly Epicanthus Feeding difficulties Cryptorchidism Muscular hypotonia Strabismus Micrognathia Failure to thrive Posteriorly rotated ears Pes planus Hypoplasia of the fallopian tube Paralysis Hemolytic anemia Hirsutism Wide nose Polymicrogyria Joint hypermobility Anal atresia Abnormal cardiac septum morphology Coloboma Respiratory tract infection Jaundice Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Anxiety Hydronephrosis Hypoglycemia Progressive alopecia Progressive extrapyramidal movement disorder Single transverse palmar crease Alopecia Abnormality of movement Delayed puberty Hypotrichosis Arthrogryposis multiplex congenita Prominent nasal bridge Camptodactyly Mental deterioration Diabetes mellitus Babinski sign Polyneuropathy Abnormality of metabolism/homeostasis Dystonia Gait disturbance Downslanted palpebral fissures Dysarthria Hyperreflexia Peripheral neuropathy Delayed speech and language development Sensory neuropathy Triangular face Decreased serum insulin-like growth factor 1 Sparse eyebrow Abnormal spermatogenesis Abnormal T-wave Decreased serum testosterone level Anodontia Heart block Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Premature ovarian insufficiency Dehydration Hypogonadotrophic hypogonadism Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Highly arched eyebrow Hypodontia Scarring Recurrent aspiration pneumonia Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Prominent fingertip pads Premature thelarche Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Prominent eyelashes Eversion of lateral third of lower eyelids Optic nerve coloboma Cerebellar atrophy Hyperlordosis Developmental regression Osteopenia Dementia Thrombocytopenia Headache Congestive heart failure Vomiting Cardiomyopathy Short nasal septum Short neck Motor delay Depressed nasal bridge Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Cholangitis Mitral stenosis Intestinal malrotation Congenital hip dislocation Cupped ear Precocious puberty Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Sparse and thin eyebrow Preauricular pit Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Recurrent otitis media Small nail Blue sclerae Coarctation of aorta Otitis media Bilateral cryptorchidism Hydroureter Retinal coloboma Anal stenosis Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis IgA deficiency Bundle branch block Thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Gonadal tissue inappropriate for external genitalia or chromosomal sex



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